Biochem GWAS | February 23, 2023
In this webinar, speakers Dr. Mariet Allen, Dr. Joseph Reddy, and Stephanie Oatman from the lab of Dr. Nilufer Ertekin-Taner discuss their work published in Molecular Neurodegeneration (https://doi.org/10.1186/s13024-022-00592-2). They sought to identify genetic variants that influence the levels and solubility of Alzheimer’s Disease (AD) related proteins including Amyloid-β (Aβ) 40, Aβ42, tau, phospho-tau, and APOE in the brain. Using a novel approach of deep brain biochemical endophenotype GWAS, they identified significant associations at seven novel loci and the APOE locus. They found the variants and implicated genes at these loci also associate with multiple AD-related measures, regulate gene expression, have cell-type specific enrichment, and roles in brain health and other neuropsychiatric diseases. Interestingly, although all the biochemical measures they tested reflect proteins core to AD pathology, their results strongly suggest that each have unique genetic architecture and biological pathways that influence their specific biochemical states in the AD brain. View the recording and corresponding dataset.